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46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

ORPHA:168558 · Disease · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(44)

  • Abnormal circulating cholesterol concentrationHP:0003107
  • Abnormal sex determinationHP:0012244
  • Abnormal urine potassium concentrationHP:0012598
  • Abnormality of prenatal development or birthHP:0001197
  • Abnormality of the Leydig cellsHP:0010789
  • Absence of secondary sex characteristicsHP:0008187
  • AcidosisHP:0001941
  • Adrenocorticotropic hormone excessHP:0011749
  • Agenesis of corpus callosumHP:0001274
  • Ambiguous genitalia, maleHP:0000033
  • Aplasia of the uterusHP:0000151
  • CryptorchidismHP:0000028
  • Decreased circulating aldosterone concentrationHP:0004319
  • Decreased circulating androgen concentrationHP:0030349
  • Decreased circulating cortisol levelHP:0008163
  • Decreased fertilityHP:0000144
  • Decreased testicular sizeHP:0008734
  • DehydrationHP:0001944
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Female external genitalia in individual with 46,XY karyotypeHP:0008730
  • Generalized bronze hyperpigmentationHP:0007574
  • Generalized hyperpigmentationHP:0007440
  • GynecomastiaHP:0000771
  • HyperkalemiaHP:0002153
  • HypernatriuriaHP:0012605
  • HyponatremiaHP:0002902
  • HypotensionHP:0002615
  • HypovolemiaHP:0011106
  • Increased circulating ACTH levelHP:0003154
  • Increased circulating renin concentrationHP:0000848
  • Induced vaginal deliveryHP:0030369
  • Low maternal serum estriolHP:0008073
  • Male pseudohermaphroditismHP:0000037
  • Neonatal hypoglycemiaHP:0001998
  • OsteoporosisHP:0000939
  • Primary adrenal insufficiencyHP:0008207
  • Reduced bone mineral densityHP:0004349
  • Renal salt wastingHP:0000127
  • Sex reversalHP:0012245
  • Urogenital sinus anomalyHP:0100779
  • VomitingHP:0002013

Frequent (79-30%)(4)

  • Adrenal hypoplasiaHP:0000835
  • Elevated circulating follicle stimulating hormone levelHP:0008232
  • Elevated circulating luteinizing hormone levelHP:0011969
  • Premature birthHP:0001622

Occasional (29-5%)(3)

  • Abnormal vagina morphologyHP:0000142
  • Clitoral hypertrophyHP:0008665
  • Midshaft hypospadiasHP:0012854